Canonical Allele Identifier: CA12187213
Gene: POU5F1 HGNC NCBI

Linked Data

dbSNP Id: rs3132520
gnomAD v2: 6-31140008-C-T
gnomAD v3: 6-31172231-C-T
gnomAD v4: 6-31172231-C-T
MyVariant Identifiers: chr6:g.31140008C>T (hg19) chr6:g.31172231C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31172231C>T , CM000668.2:g.31172231C>T GRCh38
NC_000006.11:g.31140008C>T , CM000668.1:g.31140008C>T GRCh37
NC_000006.10:g.31247987C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000441888.7:c.-183-6184G>A ENSP00000389359.2:n.-183-6184G>A
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